ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139669843
Gene: KCNJ1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000211.1:p.Cys49Tyr
CA6357574
NM_000220.6:c.146G>A